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  1. Lysinuric Protein Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1361
    ... For information on selection criteria, click here . National Urea Cycle Disorders Foundation 75 South Grand Avenue Pasadena CA 91105 ... IMD) www.e-imd.org/en/index.phtml Urea Cycle Disorder International Patient Registry Phone: 626-578-0833 Fax: ...
  2. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Complex Deficiency Refsum Disease Refsum Disease, Infantile Tyrosinemias Urea Cycle Disorders, Inborn Argininosuccinic Aciduria Carbamoyl-Phosphate Synthase I Deficiency ...
  3. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 875 Tyrosinemias C10.228.140.163.100.937 Urea Cycle Disorders, Inborn C10.228.140.163.100.937.124 ... 100.880 Tyrosinemias C16.320.565.100.940 Urea Cycle Disorders, Inborn C16.320.565.100.940.124 Argininosuccinic ...
  4. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 875...........................................Tyrosinemias C10.228.140.163.100.937...........................................Urea Cycle Disorders, Inborn C10.228.140.163.100.937.124........................................... ...
  5. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... closely resemble those of hepatic encephalopathy or genetic urea cycle disorders, including nocturnal delirium, aberrant behaviors (aggression, irritability, and ...
  6. xmlmplus_topics_2024-05-04.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-04.xml
    ... site ><information-category >Specifics</information-category><organization >National Urea Cycle Disorders Foundation</organization></site><site ><information-category >Genetics</information- ...
  7. Episodic Ataxia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1501
    ... type 1 ), argininosuccinase deficiency , and arginase deficiency . See Urea Cycle Disorders Overview . The identification of a significantly elevated blood ... sodium phenylacetate/sodium benzoate; long-term treatment of urea cycle disorders generally includes a high-calorie, low-protein diet ...
  8. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... P. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab ... A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit ...
  9. PMM2-CDG (CDG-Ia) - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... disorders, Zellweger syndrome spectrum Urea cycle defects (see Urea Cycle Disorders Overview ) Management Evaluations Following Initial Diagnosis To establish ...
  10. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... I AR CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR CPT1A Carnitine palmitoyltransferase 1A deficiency AR ...
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